Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000606866 | SCV000717303 | likely benign | not specified | 2018-03-15 | criteria provided, single submitter | clinical testing | This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease. |
Invitae | RCV002063055 | SCV002325746 | benign | Adams-Oliver syndrome 5 | 2023-12-19 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV002063055 | SCV002554971 | benign | Adams-Oliver syndrome 5 | 2022-03-15 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV002270746 | SCV002554972 | benign | Aortic valve disease 1 | 2022-03-15 | criteria provided, single submitter | clinical testing | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000606866 | SCV004039001 | benign | not specified | 2023-08-10 | criteria provided, single submitter | clinical testing | |
Ce |
RCV003424174 | SCV004162048 | benign | not provided | 2022-08-01 | criteria provided, single submitter | clinical testing | NOTCH1: BS1, BS2 |